Phenotypic characteristics and clinical manifestations of inflammatory bowel disease in infants and children under 2 years of age in Liaoning Province, China: five of six infants with IL-10R mutations

摘要

A retrospective analysis of the phenotypic characteristics, clinical manifestations, investigations and interleukin-10 receptor (IL-10R) status of inflammatory bowel disease (IBD) in infants and children under 2 years of age in Liaoning Province, China between January 2015 and October 2016 is described. Six patients without a family history of IBD were diagnosed with Crohn disease, and IL-10R mutations were detected in five of them. Compound heterozygous patients with IL-10R mutations had severe clinical manifestations, were resistant to standard medication for IBD and had a poor prognosis as haematopoietic stem cell transplantation (HSCT) was not undertaken. Two of these patients died of suspected septicaemia. IBD in infants and children under 2 years of age is life-threatening when patients with IL-10R mutations do not receive allogeneic HSCT.